T9M (p.Thr9Met) variant of MEN1 (Menin)
T9M (p.Thr9Met) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1. The record also includes published literature and structural context.
T9M (p.Thr9Met) variant details
- p.Thr9Met
- rs2497290618
- ClinGen CA381188259
- ClinVar RCV003518366
- ClinVar RCV005675224
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)